Linked Data
ClinVar Variation Id:
536791
dbSNP Id:
rs139041955
ExAC:
1:6530423 C / G
gnomAD v2:
1-6530423-C-G
gnomAD v3:
1-6470363-C-G
gnomAD v4:
1-6470363-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6470363C>G , CM000663.2:g.6470363C>G | GRCh38 |
| NC_000001.10:g.6530423C>G , CM000663.1:g.6530423C>G | GRCh37 |
| NC_000001.9:g.6453010C>G | NCBI36 |
| NG_007978.1:g.54647G>C , LRG_262:g.54647G>C | |
| NG_029910.1:g.833G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.1681-8G>C | ENSP00000344570.5:n.1681-8G>C | |
| ENST00000377728.8:c.1681-8G>C MANE Select | ENSP00000366957.3:n.1681-8G>C | |
| ENST00000377740.5:c.1681-8G>C | ENSP00000366969.4:n.1681-8G>C | |
| ENST00000377748.6:c.1855-8G>C | ENSP00000366977.2:n.1855-8G>C | |
| ENST00000400913.6:c.1681-8G>C | ENSP00000383704.1:n.1681-8G>C | |
| ENST00000400915.8:c.1792-8G>C | ENSP00000383706.4:n.1792-8G>C | |
| ENST00000489097.6:n.2157-8G>C | ||
| ENST00000535355.6:c.1888-8G>C | ENSP00000441445.1:n.1888-8G>C | |
| ENST00000537245.6:c.1792-8G>C | ENSP00000439625.2:n.1792-8G>C | |
| ENST00000673471.2:c.1978-8G>C | ENSP00000500749.1:n.1978-8G>C | |
| ENST00000674790.1:c.*1893-8G>C | ENSP00000502815.1:n.*1893-8G>C | |
| ENST00000674943.1:n.343-8G>C | ||
| ENST00000675123.1:c.1681-8G>C | ENSP00000502132.1:n.1681-8G>C | |
| ENST00000675548.1:c.*1509-8G>C | ENSP00000502684.1:n.*1509-8G>C | |
| ENST00000675694.1:c.1681-8G>C | ENSP00000501925.1:n.1681-8G>C | |
| ENST00000676401.1:n.228-8G>C | ||
| ENST00000340850.9:c.1681-8G>C | ENSP00000344570.5:n.1681-8G>C | |
| ENST00000377725.5:c.1681-8G>C | ENSP00000366954.1:n.1681-8G>C | |
| ENST00000377728.7:c.1681-8G>C | ENSP00000366957.3:n.1681-8G>C | |
| ENST00000377732.5:c.1792-8G>C | ENSP00000366961.1:n.1792-8G>C | |
| ENST00000377740.4:c.1912-8G>C | ENSP00000366969.3:n.1912-8G>C | |
| ENST00000377748.5:c.1912-8G>C | ENSP00000366977.1:n.1912-8G>C | |
| ENST00000400913.5:c.1681-8G>C | ENSP00000383704.1:n.1681-8G>C | |
| ENST00000400915.7:c.1849-8G>C | ENSP00000383706.3:n.1849-8G>C | |
| ENST00000487949.4:n.883-8G>C | ||
| ENST00000489097.5:n.2157-8G>C | ||
| ENST00000535355.5:c.1888-8G>C | ENSP00000441445.1:n.1888-8G>C | |
| ENST00000537245.5:c.1918-8G>C | ENSP00000439625.1:n.1918-8G>C | |
| NM_001042663.1:c.1849-8G>C | NP_001036128.1:n.1849-8G>C | |
| NM_001042664.1:c.1681-8G>C | NP_001036129.1:n.1681-8G>C | |
| NM_001042665.1:c.1681-8G>C | NP_001036130.1:n.1681-8G>C | |
| NM_001265592.1:c.1918-8G>C | NP_001252521.1:n.1918-8G>C | |
| NM_001265593.1:c.1888-8G>C | NP_001252522.1:n.1888-8G>C | |
| NM_001265594.1:c.1681-8G>C | NP_001252523.1:n.1681-8G>C | |
| NM_020631.4:c.1681-8G>C | NP_065682.2:n.1681-8G>C | |
| NM_198681.3:c.1912-8G>C | NP_941374.2:n.1912-8G>C | |
| NM_001042663.2:c.1849-8G>C | NP_001036128.1:n.1849-8G>C | |
| NM_001265594.2:c.1681-8G>C | NP_001252523.1:n.1681-8G>C | |
| NM_020631.5:c.1681-8G>C | NP_065682.2:n.1681-8G>C | |
| NM_001042663.3:c.1792-8G>C | NP_001036128.2:n.1792-8G>C | |
| NM_001265592.2:c.1792-8G>C | NP_001252521.2:n.1792-8G>C | |
| NM_020631.6:c.1681-8G>C MANE Select | NP_065682.2:n.1681-8G>C | |
| NM_198681.4:c.1681-8G>C | NP_941374.3:n.1681-8G>C |